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  • Stickler syndrome : a case report
    Cvenkel, Barbara ; Zupan, Marija
    We report a pedigree with Stickler syndrome. In 20 family members of four generations 12 affected individuals were identified. In all high myopia at least -8.00 Diopters with vitreoretinal ... degenerative changes was present. Retinal detachments, cataracts, glaucoma were present in some of them. of systemic features the most prominent was severe hearing deficit present in allthe ten tested family members, epiphyseal dysplasia and maxillofacial hypoplasia in four affected family members. Different, but also the same mutations in type II collagen cause different clinical phenotypes. Genetic analysis is required to enable prenatal diagnosis and counselling in the presented family.
    Vir: XIth congress of the European society of ophthalmology : Budapest (Hungary), june 1-5, 1997 (Str. 767-771)
    Vrsta gradiva - prispevek na konferenci
    Leto - 1997
    Jezik - angleški
    COBISS.SI-ID - 9746393

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